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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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NM_000277.2(PAH):c.355C>T (p.Pro119Ser)

CA220582

92741 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.355C>T
NC_000012.12:g.102877548G>A
CM000674.2:g.102877548G>A
NC_000012.11:g.103271326G>A
CM000674.1:g.103271326G>A
NC_000012.10:g.101795456G>A
NG_008690.1:g.45055C>T
NG_008690.2:g.85863C>T
NM_000277.1:c.355C>T
NM_001354304.1:c.355C>T
NM_000277.3:c.355C>T
ENST00000307000.7:c.340C>T
ENST00000549111.5:n.451C>T
ENST00000550978.6:n.339C>T
ENST00000551337.5:c.355C>T
ENST00000551988.5:n.444C>T
ENST00000553106.5:c.355C>T
NM_000277.2(PAH):c.355C>T (p.Pro119Ser)

Likely Pathogenic

Met criteria codes 3
PP4_Moderate PM3_Strong PP3
Unmet criteria codes 1
PM2

Expert Panel

Evidence Links 2

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PP3: in silico analysis supportive of damaging effect; PM3_Strong: In trans with R261Q (PMID 21147011), and in trans with IVS2+1G>A (PMID 12655554) (PMID:21147011; PMID:12655554); PP4_Moderate: BH4 deficiency excluded (PMID:21147011). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PP3, PM3_Strong, PP4_Moderate).
Met criteria codes
PP4_Moderate
BH4 deficiency excluded

PM3_Strong
In trans with R261Q (PMID 21147011), and in trans with IVS2+1G>A (PMID 12655554)

PP3
in silico analysis supportive of damaging effect
Unmet criteria codes
PM2
PAH specific specifications state PM2 criteria as 0.02% (AF=0.0002)
Approved on: 2018-07-29
Published on: 2019-04-06
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